Krabbe disease: the importance of early diagnosis for prognosis
2012 ◽
Vol 10
(2)
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pp. 233-235
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Keyword(s):
Krabbe disease (globoid cell leukodystrophy) is an inherited recessive autosomal leukodystrophy caused by deficiency of the enzyme galactocerebrosidase. The lack of this enzyme leads to the build-up of galactolipids that will promote the death of oligodendrocytes and the demyelination of the central and peripheral nervous systems. There are two clinical forms: early onset and late onset. This article reports a case of late onset Krabbe disease and discusses the importance of early diagnosis for its prognosis.
Keyword(s):
2005 ◽
Vol 27
(9)
◽
pp. 461
Keyword(s):
1996 ◽
Vol 63
(1)
◽
pp. 209-217
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2003 ◽
Vol 79B
(1)
◽
pp. 1-8
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2001 ◽
Vol 10
(11)
◽
pp. 1191-1199
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Keyword(s):